- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05833633
Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations
Study of Genotype and Phenotype Characterization and Biomarkers Profile in Duchenne Muscular Dystrophy With Small Mutations
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: CLAUDIA BROGNA
- Phone Number: +393208103724
- Email: claudia.brogna@policlinicogemelli.it
Study Locations
-
-
-
Rome, Italy, 00168
- Recruiting
- Claudia Brogna
-
Contact:
- CLAUDIA BROGNA
- Phone Number: +393208103724
- Email: claudia.brogna@policlinicogemelli.it
-
Principal Investigator:
- CLAUDIA BROGNA
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- DMD diagnosis confirming a small mutation genotype.
Exclusion Criteria:
- DMD patient enrolled in other clinical trials using genetic approach
- impossibility to perform MRI without sedation
- presence of severe cognitive or behavioral problems
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Group of DMD patients with different type of small mutations (Group 1)
Group of DMD patients with different type of small mutations (15 ambulant or not-ambulant patients)
|
To assess longitudinally at baseline and 1 year later changes on muscle MRI, genetic test, functional motor and respiratory assessments in the DMD group with different type of small mutations and the DMD group with non sense mutations treated with Atarulen in order to better define natural history of these patients. .
Other Names:
|
Group of DMD patients with non sense mutations in treatment with Traslarna (Group 2)
Group of 10 ambulant DMD patients with non sense mutations in treatment with Traslarna (3-[5-(2-fluoro-phenyl)-[1,2,4]oxadiazole-3-yl]-benzoic acid).
|
To assess longitudinally at baseline and 1 year later changes on muscle MRI, genetic test, functional motor and respiratory assessments in the DMD group with different type of small mutations and the DMD group with non sense mutations treated with Atarulen in order to better define natural history of these patients. .
Other Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Longitudinal Motor changes in 15 DMD boys with different types of small mutations (Group 1)
Time Frame: 1 year
|
To found in a cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in motor functional assessments including the six minute walking test and the Performance of the Upper Limb.
|
1 year
|
Longitudinal respiratory changes in 15 DMD boys with different types of small mutations (Group 1)
Time Frame: 1 year
|
To found in the same cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in respiratory data using the Peak Expiratory Flow percentage predicted. , |
1 year
|
Longitudinal Muscle MRI changes in 15 DMD boys with different types of small mutations (Group 1)
Time Frame: 1 year
|
To found in the same cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in muscle MRI scores
|
1 year
|
Longitudinal genetic changes in 15 DMD boys with different types of small mutations (Group 1)
Time Frame: 1 year
|
To found in the same cohort of 15 patients (prospective cohort) with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in genetic test (urinary stem cells for MiRNA study). Genomic DNA exploring the 5 SNPs associated to the LOA will be collected at T0 only |
1 year
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Longitudinal Motor changes in 10 ambulant DMD boys carrying non-sense mutations treated with Traslarna (Group 2)
Time Frame: 1 year
|
To found in a cohort of 10 ambulant DMD boys carrying non-sense mutations treated with Traslarna at baseline (T0) ad 1 year later (T1) some differences in motor functional assessments including the six minute walking test and the Performance of the Upper Limb
|
1 year
|
Longitudinal respiratory changes in 10 ambulant DMD boys carrying non-sense mutations treated with Traslarna (Group 2)
Time Frame: 1 year
|
To found in the same cohort of 10 ambulant DMD boys carrying non-sense mutations treated with Traslarna at baseline (T0) ad 1 year later (T1) some differences in respiratory data using the Peak Expiratory Flow percentage predicted.
|
1 year
|
Longitudinal Muscle MRI changes in10 ambulant DMD boys carrying non-sense mutations treated with Traslarna (Group 2)
Time Frame: 1 year
|
To found in the same cohort of 10 ambulant DMD boys carrying non-sense mutations treated with Traslarna at baseline (T0) and 1 year later (T1) some differences in muscle MRI scores
|
1 year
|
Longitudinal genetic changes in10 ambulant DMD boys carrying non-sense mutations treated with Traslarna (Group 2)
Time Frame: 1 year
|
To found in the same cohort of 10 ambulant DMD boys carrying non-sense mutations treated with Traslarna some differences in genetic test (urinary stem cells for MiRNA study). Genomic DNA exploring the 5 SNPs associated to the LOA will be collected at T0 only |
1 year
|
Collaborators and Investigators
Investigators
- Principal Investigator: CLAUDIA BROGNA, MD, PhD, Fondazione Policlinico Gemelli., IRCCS, Rome, Italy
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 3791
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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